Canonical Allele Identifier: CA2202176727

Gene: ABCA3

Linked Data

• dbSNP Id: rs2093753186

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2337181del , CM000678.2:g.2337181del	GRCh38
NC_000016.9:g.2387182del , CM000678.1:g.2387182del	GRCh37
NC_000016.8:g.2327183del	NCBI36
NG_011790.1:g.8566del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.-539+3392del MANE Select	ENSP00000301732.5:n.-539+3392del
ENST00000301732.9:c.-539+3392del	ENSP00000301732.5:n.-539+3392del
ENST00000382381.7:c.-539+3392del	ENSP00000371818.3:n.-539+3392del
ENST00000563623.5:n.25+3392del
NM_001089.2:c.-539+3392del	NP_001080.2:n.-539+3392del
NM_001089.3:c.-539+3392del MANE Select	NP_001080.2:n.-539+3392del